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Novel GLA T194A variant causes Fabry disease
BMJ Case Reports, 2021Fabry disease (FD) is an X-linked, systemic lysosomal deposition disease caused by alpha-galactosidase A (AGAL) enzyme deficiency deriving out of changes on the GLA gene. Though several mutations have been described, one must consider that even a specific mutation may present with variable clinical expression within the same family. Typically described
Maria Nicole Pestana +3 more
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The novel humanSHOX allelic variant database
Human Mutation, 2007Short stature due to SHOX deficiency represents the most commonly known form of growth failure, with a frequency greater than 1:1,000 in the Caucasian population. As many different mutations can cause SHOX haploinsufficiency, a comprehensive collection of gene variants represents an essential tool to distinguish between functional variants and ...
Beate, Niesler +5 more
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Unprecedented brachial plexus: a novel variant
Anatomical Science InternationalAnatomic variations in the brachial plexus, observed in a 78-year-old Indian male cadaver, are clinically significant for surgical planning and nerve blocks. Deviations in root values and branching patterns can lead to abnormal sensory or motor dysfunction during interventions.
Abhishek Sharma +5 more
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Diabetes, 2001
Glutamine:fructose-6-phosphate amidotransferase(GFAT) is the rate-limiting enzyme of the hexosamine synthesis pathway. Products of this pathway have been implicated in insulin resistance and glucose toxicity. GFAT1 is ubiquitous, whereas GFAT2 is expressed mainly in the central nervous system.
John E. DeHaven +3 more
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Glutamine:fructose-6-phosphate amidotransferase(GFAT) is the rate-limiting enzyme of the hexosamine synthesis pathway. Products of this pathway have been implicated in insulin resistance and glucose toxicity. GFAT1 is ubiquitous, whereas GFAT2 is expressed mainly in the central nervous system.
John E. DeHaven +3 more
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Neonatal polycystic kidney disease: a novel variant
BMJ Case Reports, 2021Polycystic kidney disease (PKD) is a condition typified by multiple renal cysts and renal enlargement. Classification is usually determined by mode of inheritance—autosomal dominant PKD (ADPKD) or autosomal recessive PKD (ARPKD). ARPKD frequently presents in fetal life, but here we report a rare case of a family with two siblings diagnosed with ADPKD ...
Catherine Finnegan +2 more
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Transfusion Medicine, 2006
Introduction Variants of the RhD antigen are often categorised into weak D and partial D phenotypes, although the distinction between the two groups is unclear. One frequently used definition is the ability to make alloanti‐D in partial D, but not in weak D phenotypes, however some phenotypes characterised as weak D are now known to be associated with
L. Tilley +4 more
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Introduction Variants of the RhD antigen are often categorised into weak D and partial D phenotypes, although the distinction between the two groups is unclear. One frequently used definition is the ability to make alloanti‐D in partial D, but not in weak D phenotypes, however some phenotypes characterised as weak D are now known to be associated with
L. Tilley +4 more
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Three Novel Variants in X-linked Adrenoleukodystrophy
Journal of Child Neurology, 2009X-linked adrenoleukodystrophy is an inherited neurological disorder caused by mutations in the ABCD1 gene (located on chromosome Xq28) encoding adrenoleukodystrophy protein which is involved in the transport of substrates from the cytoplasm into the peroxisomal lumen. There is a scarcity of reports on mutation analysis of X-linked adrenoleukodystrophy
Pallavi, Shukla +7 more
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Clinical diversity caused by novel IGHMBP2 variants
Journal of Human Genetics, 2017Immunoglobulin helicase μ-binding protein 2 (IGHMBP2) gene is responsible for Charcot-Marie-Tooth disease (CMT) type 2S and spinal muscular atrophy with respiratory distress type 1 (SMARD1). From June 2014 to December 2015, we collected 408 cases, who referred to our genetic laboratory for genetic analysis, suspected with CMT disease or other inherited
Jun-Hui Yuan +12 more
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Novel variants in human and monkey CETP
Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, 2005Variation in CETP has been shown to play an important role in HDL-C levels and cardiovascular disease. To better characterize this variation, the promoter and exonic DNA for CETP was resequenced in 189 individuals with extreme HDL-C or age. Two novel amino acid variants were found in humans (V-12D and Y361C) and an additional variant (R137W) not ...
David B, Lloyd +7 more
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Novel causative variants in patients with achromatopsia
Ophthalmic Genetics, 2018To report five novel genetic variants in seven unrelated consanguineous families with achromatopsia (ACHM).Patients were examined with multimodal retinal imaging and full-field electroretinography (ffERG). Genetic testing was conducted using next-generation sequencing (NGS).Three novel homozygous variants were detected in CNGA3: a missense c.967G > C ...
Ehab Abdelkader +5 more
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